NUMERO: #20240076

Título: BRAFV600E (VE1)-neg INTRAORAL LANGERHANS CELL HISTIOCYTOSIS SHOWING MUTATIONS ON NEXT-GENERATION DNA SEQUENCING

Nome do Apresentador: Ana Cláudia Oliveira Teles

Categoria do Trabalho: Painel de caso clínico (PCC)

Área Temática: Estomatologia

Resumo: Langerhans cell histiocytosis (LCH) is a clonal proliferative disorder of Langerhans cells, which can produce different clinical manifestations, either focal/localized or systemic. LCH occurs predominantly in children and rarely in adults. Clinically, they can be confused with primary inflammatory, odontogenic, infectious and neoplastic lesions. A 52-year-old female was referred presenting a gingival ulcerative lesion, initially suggesting periodontal disease. During the anamnesis, the patient reported liver and endocrine function alterations, as well as diabetes insipidus. After incisional biopsy, and immunopositivity for S100, CD1a and CD207, the diagnosis was LCH, low-risk multisystem category. Immunostaining for VE1 clone was negative. Next-generation DNA sequencing detected mutations in the BRAF (exon 11/18) and HRAS (exon 3/6) genes. The current case highlights the need for molecular studies to understand the real spectrum of mutations associated with LCH, with diagnostic and therapeutic impact.

Autor 1:  Ana Cláudia Oliveira Teles

E-mail 1:  [email protected]

Autor 2:   Gabriela Fonseca Rocha

E-mail 2:  [email protected]

Autor 3 :  Patrícia Furtado Gonçalves

E-mail 3:  [email protected]

Autor 4:  Karina Helen Martins

E-mail 4:  [email protected]

Autor 5:  Anderson Tangerino Ferreira da Silva

E-mail 5:  [email protected]

Autor 6:  Jorge Esquiche León

E-mail 6:  [email protected]

Autor 7:  Ana Terezinha Marques Mesquita

E-mail 7:  [email protected]